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Keywords: Tobacco; Cumuliphoma indica; China; Fungal pathogens EN Tobacco Cumuliphoma indica China Fungal pathogens 331 332 2 03/16/23 20230201 NES 230201 Supplementary Information The online version contains supplementary material available at https://doi.org/10.1007/s42161-022-01247-3. Tobacco, Cumuliphoma indica, China, Fungal pathogens. [Extracted from the article]

Petroleum hydrocarbon (PHC) pollution in marine bays has been one of the critical environmental issues in many countries and regions. Jiaozhou Bay is a semi-closed bay in the fastgrowing region in eastern China and has been contaminated by a variety of pollutants after the 1980s. Using investigation data in this bay during 1981-1988, this paper analyzed the temporal, spatial and seasonal changes of PHC. Results showed that PHC contents in surface waters during 1984-1988 were 0.01-0.16 mgL-1, 0.025-0.124 mgL-1, 0.005-0.122 mgL-1, 0.014-0.091 mgL-1 and 0.005-0.178 mgL-1, respectively. The pollution level of PHC during 1984-1988 was moderate and was changing with seasons due to the variations of source input. Low values of PHC contents during 1984-1988 were all closed to 0.005 mgL-1, and this value could be considered as the 'background' value of PHC. High values of PHC contents in spring during this period tended to be stable, yet in summer and autumn during this period tended to be increasing. Stream discharge was the major source of PHC, and marine traffic and marine itself were also responsible. The source strengths were still slight/moderate in according to Chinese Sea Water Quality Standard (GB 3097-1997). Stream discharge was one of the major sources of PHC in every year, and the source strengths were increasing along with time. PHC in this bay was mainly input from rainfall runoff. Marine traffic had been one of the important sources since the 1980s, indicated that the oil leaking from marine traffic should be paid attention to. Marine current was also one of the important sources, and the source strengths could be as high as 0.122 mgL-1. Rainfall runoff was the major force of various pollutants to the marine bay, the source input of PHC was also in order of summer > spring > autumn > winter. This was the major reason to explain the seasonal variations of PHC contents in Jiaozhou Bay. The background value of PHC in the marine bay was 0.005 mgL-1, and the increase of PHC contents in the ocean could be calculated as 0.122-0.005 = 0.117 mgL-1. This was the results of the storage of PHC in the ocean. The control and management of anthropogenic source input of PHC in the marine bay were necessary. The outcome of this paper is to identify the major sources, to define the annual change trend and the spatial-seasonal variations, to assess the storage of PHC in the marine bay, and to provide a basis for environmental management decision-making. [ABSTRACT FROM AUTHOR]

Objective: To analyze the distribution characteristics of the anterior corneal astigmatism in 140 000 cataract patients from 18 hospitals in China. Methods: Retrospective study. A total of 143 889 patients (143 889 right eyes) over the age of 40 years with age-related catarac were admitted to 18 Aier eye hospitals in China from July 2015 to October 2018. The average values of the three measurements of the magnitude of anterior corneal astigmatism, the meridian of corneal astigmatism, anterior chamber depth, corneal refractive power, and axial length measured by IOLMaster 500 were obtained. The data acquisition method of each sub-center was to collect and analyze the electronic case data in accordance with the inclusion and exclusion criteria, and to provide them for the sponsor Wuhan Aier Eye Hospital. Non-normal distribution data are presented as M ( P 25 , P 75 ). Mann-Whitney test, Kruskal-Wallis test, Chi-square test were used to analyze the distribution differences of the magnitude of corneal astigmatism and the meridian of corneal astigmatism in gender, age, anterior chamber depth, corneal refractive power and axial length. Results: Among the 143 889 patients, 84 319 were females and 59 570 were males, the median age was 72 (65, 78) years old, the median corneal astigmatism was 0.84 (0.51, 1.33) D; the corneal astigmatism was ≥0.75 D in 80 895 patients (56.22%) and was ≥1.00 D in 57 304 patients (39.83%). The median corneal astigmatism was 0.87 (0.53, 1.37) D in women and 0.82 (0.50, 1.29) D in men; with statistical difference ( U =-14.891; P <0.05). The proportion of with-the-rule (WTR) astigmatism was 33.26% (28 046/84 319) for women and 34.26% (20 408/59 570) for men; The proportion of against-the-rule (ATR) astigmatism was 49.08% (41 385/84 319) for women and 46.91% (27 945/59 570) for men, with statistical difference (χ²=70.913; P <0.05). With the increase of age, the magnitude of corneal astigmatism first decreased from 0.94 (0.57, 1.48) D to 0.75 (0.46, 1.18) D, and then increased to 1.19 (0.74, 1.79) D, with statistical difference ( H =1 263.438; P <0.05), and the change was at 61 to 70 years old. With the increase of age, the proportion of WTR astigmatism decreased from 77.50% (396/511) to 12.50% (3/24), the proportion of ATR astigmatism increased from 11.15% (57/511) to 79.07% (34/43), and the proportion of oblique astigmatism changed little from 17.02% (16/94) to 19.92% (245/1 230), the distribution difference was significant (χ²=10 174.496; P <0.05). As the anterior chamber became shallow, the magnitude of corneal astigmatism significantly increased from 0.82 (0.51, 1.31) D to 1.05 (0.61, 1.56) D, and the proportion of ATR astigmatism increased from 47.32% (60 207/127 227) to 51.69% (184/356) ( H =409.961, χ²=120.995, both P <0.05). With the corneal refractive power rising, the magnitude of corneal astigmatism increased from 0.80 (0.49, 1.33) D to 0.95 (0.58, 1.53) D, the proportion of ATR astigmatism decreased from 52.84% (4 963/9 392) to 39.97% (9 023/22 577); the difference was significant ( H =808.562, χ²=752.147, both P <0.05). When the axial length was>25.00 mm, the magnitude of corneal astigmatism was highest [1.04 (0.62, 1.65) D], and the proportion of ATR astigmatism was also highest [49.00% (10 964/22 376)]; the difference was significant ( H =2 071.198, χ²=131.130, all P <0.05). Conclusions: The meridian of corneal astigmatism in middle-aged and elderly cataract patients is mainly ATR astigmatism. With the increasing of age, the magnitude of corneal astigmatism decreases first and then increases. The turning point from the proportion of WTR astigmatism to the proportion of ATR astigmatism is 65 years old. The shallower the anterior chamber is, the more the magnitude of corneal astigmatism and the proportion of ATR astigmatism increase. When the axial length is>25.00 mm, both the magnitude of corneal astigmatism and the proportion of ATR astigmatism reach the peak. (Chin J Ophthalmol, 2021, 57: 56-62) .

Coronavirus disease 2019 (COVID-19) can cause great damage to the elderly patients and lead to high mortality. The clinical presentations and auxiliary examinations of the elderly patients with COVID-19 are atypical, due to the physiological ageing deterioration and basal pathological state. The treatment strategy for the elderly patients has its own characteristics and treatment protocol should be considered accordingly. To improve the diagnosis, treatment, and prevention of COVID-19 in the elderly, the Expert Committee of Geriatric Respiratory and Critical Care Medicine, China Society of Geriatrics established the "Expert consensus for the diagnosis, treatment, and prevention of coronavirus disease 2019 in the elderly" . We focused on the clinical characteristics and key points for better treatment and prevention of COVID-19 in the elderly. (1) For diagnosis, atypical clinical presentation of COVID-19 in the elderly should be emphasized, which may be complicated by underlying disease. (2) For treatment, strategy of multiple disciplinary team (mainly the respiratory and critical care medicine) should be adopted and multiple systemic functions should be considered. (3) For prevention, health care model about integrated management of acute and chronic diseases, in and out of hospital should be applied.

Objectives: To summarize the clinical and genetic characteristics of the patients with isolated methylmalonic acidemia and investigate the strategies for the diagnosis, treatment and prevention. Methods: Three hundred and fourteen patients (180 males, 134 females) with isolated methylmalonic acidemia were ascertained from 26 provinces or cities across the mainland of China during January 1998 to March 2020. Genetic analysis was performed by Sanger sequencing, gene panel sequencing, whole exome sequencing, multiplex ligation-dependent probe amplification or quantitative PCR. According to the age of onset, the patients were divided to early-onset group (≤12 months of age) and the late-onset group (>12 months of age). They were treated by cobalamin, L-carnitine and (or) special diet and symptomatic treatment. Statistical analysis was done using Chi-square test. Results: Fifty-eight of 314 (18.5%) patients were detected by Newborn screening using liquid chromatography tandem mass spectrometry. Five cases (1.6%) had a postmortem diagnosis. Two hundred and fifty-one patients (79.9%) were clinically diagnosed with an age of onset ranged from 3 hours after birth to 18 years. One hundred and fifty-nine patients (71.0%) belonged to early-onset groups, 65 patients (29.0%) belonged to the late-onset group. The most common symptoms were metabolic crises, psychomotor retardation, epilepsy, anemia and multiple organ damage. Metabolic acidosis and anemia were more common in early-onset patients than that in late-onset patients (20.8%(33/159) vs. 9.2% (6/65), 34.6% (55/159) vs. 16.9% (11/165), χ(2)=4.261, 6.930, P= 0.039, 0.008). Genetic tests were performed for 236 patients (75.2%), 96.2%(227/236) had molecular confirmation. One hundred and twenty-seven variants were identified in seven genes (MMUT, MMAA, MMAB, MMADHC, SUCLG1, SUCLA2, and MCEE), of which 49 were novel. The mut type, caused by the deficiency of methylmalonyl-CoA mutase, was the most common ( n= 211, 93%) cause of this condition. c.729&#95;730insTT, c.1106G>A and c.914T>C were the three most frequent mutations in MMUT gene. The frequency of c.914T>C in early-onset patients was significantly higher than that in late-onset patients (8.3% (18/216) vs. 1.6% (1/64), χ(2)=3.859, P= 0.037). Metabolic crisis was more frequent in mut type than the other types (72.6% (114/157) vs. 3/13, χ(2)=13.729, P= 0.001),developmental delay and hypotonia were less frequent in mut type (38.2% (60/157) vs. 9/13, 25.5% (40/157) vs. 8/13, χ(2)=4.789, 7.705, P= 0.030, 0.006). Of the 58 patients identified by newborn screening, 44 patients (75.9%) who were treated from asymptomatic phase developed normally whereas 14 patients (24.1%) who received treatment after developing symptoms exhibited varying degrees of psychomotor retardation. Conclusions: The characteristics of phenotypes and genotypes among Chinese patients with isolated methylmalonic acidemia were analyzed. Expanded the mutation spectrum of the associated genes. Because of the complex clinical manifestations and severe early onset of isolated methylmalonic acidemia, Newborn screening is crucial for early diagnosis and improvement of prognosis. MMUT gene is recommended for carrier screening as an effort to move the test earlier as a part of the primary prevention of birth defects.

Abstract: Objective To evaluate the effect of 56 ancestry informative single nucleotide polymorphism （aiSNP） genetic markers in the ForenSeq TM DNA Signature Prep Kit on ancestry inference. Methods A total of 85 samples from five populations including Hebei Han population, Inner Mongolia autonomous region Mongolian population, Tibet autonomous region Tibetan population, Xinjiang Uygur autonomous region Uygur population and Nigerian population were collected. The library was constructed with the ForenSeq TM DNA Signature Prep Kit and sequencing was performed based on the MiSeq FGx Forensic Genomics System. Using universal analysis software （UAS） of ForenSeq TM , principal component analysis （PCA）, Structure and likelihood ratio method was used on the genotyping data of 56 aiSNP markers, respectively, and the genetic relationships between populations and inference of the origin of ancestors were analyzed. Results Among the five populations tested, the four ethnic populations in China （Hebei Han population, Inner Mongolia autonomous region Mongolian population, Tibet autonomous region Tibetan population and Xinjiang Uygur autonomous region Uygur population） could be significantly distinguished from Nigerian population. Xinjiang Uygur autonomous region Uygur individuals were shown as having mixed origins of ancestors and could be distinguished from the other three Chinese populations. However, the other three populations in China （Hebei Han population, Inner Mongolia autonomous region Mongolian population and Tibet autonomous region Tibetan population） could not be effectively distinguished by the system. Conclusion The 56 aiSNP markers in the ForenSeq TM DNA Signature Prep Kit can make accurate ancestry inference from the intercontinental level, but it is not yet able to distinguish between Chinese subpopulations., Competing Interests: The authors of this article and the planning committee members and staff have no relevant financial relationships with commercial interests to disclose., (Copyright© by the Editorial Department of Journal of Forensic Medicine.)

Objective: To describe the prevalence of preterm birth (PB), low birth weight (LBW), and small for gestational age (SGA) among HIV-infected pregnant women and to identify associated risk factors in Hunan province. Methods: This study appeared a retrospective one on HIV-infected pregnant women retrieved from Information System of Prevention of Mother-to-child Transmission of HIV management in Hunan province, between January 2011 and December 2017. Information regarding demographic characteristics, pregnancy, antiretroviral therapy (ART), husbands/partners' relevant situation and pregnancy outcomes, among these HIV-infected pregnant women were collected and analyzed. The incidence rates on PB, LBW and SGA were calculated. Multivariate logistic regression was used to analyze the associated risk factors. Results: A total of 780 HIV-infected pregnant women were enrolled. The prevalence rates on PB, LBW and SGA in HIV- infected pregnant women appeared as 7.9% (62/780), 9.9% (77/780) and 21.3% (166/780), respectively. Results from the multivariate logistic regression analysis showed that factors as pregnancy related diseases as moderate/severe anemia, hypertensive, initial time of ART <14 gestational weeks (compared to those women without ART during pregnancy) and husbands/partners' age >35 years old (compared to husbands/partners' age 26-30 years old) etc ., were associated with an increased risk of PB with adjusted OR as 4.59 (95 %CI : 1.51-13.95), 4.90 (95 %CI : 1.56-15.46), 2.40 (95 %CI : 1.26- 4.56) and 2.29 (95 %CI : 1.21-4.36). For LBW, pregnancy moderate/severe anemia, pregnancy HBV infection and initial time of ART <14 gestational weeks were associated with an increased risk of LBW, with adjusted OR as 3.28 (95 %CI : 1.13-9.54), 4.37 (95 %CI : 1.42-13.44) and 2.68 (95 %CI : 1.51-4.76), respectively. For SGA, pregnancy HBV infection and initial time of ART <14 gestational weeks were risk factors for SGA, with adjusted OR as 4.41 (95 %CI : 1.43-13.63) and 2.67 (95 %CI : 1.51-4.73), respectively. Conclusion: Preterm birth, LBW and SGA were common adverse pregnancy outcomes for HIV-infected pregnant women and were associated with factors as pregnancy complications, ART and husbands/partners' age.

Objective: To analyz the current situation of the diagnosis, treatment and prevention of methylmalonic acidemia, the phenotypes, biochemical features and genotypes of the patients in the mainland of China, were investigated. Methods: Tottally 1 003 patients of methylmalonic acidemia from 26 provinces and municipalities of the mainland of China were enrolled. The clinical data, biochemical features and gene mutations were studied. Blood aminoacids and acylcarnitines, urine organic acids, and plasma total homocysteine were determined for the biochemical diagnosis. Gene analyses were performed for the genetic study of 661 patients. The patients were treated with individual intervention and long-term follow up. Prenatal diagnoses were carried out for 165 fetuses of the families. Results: Among 1 003 patients (580 boys and 423 girls), 296 cases (29.5%) had isolated methylmalonic acidemia; 707 cases (70.5%) had combined homocysteinemia; 59 patients (5.9%) were detected by newborn screening; 944 patients (94.1%) had the onset at the ages from several minutes after birth to 25 years and diagnosed at 3 days to 25 years of age. The main clinical presentations were psychomotor retardation and metabolic crisis. Multi-organ damage, including hematological abnormalities, pulmonary hypertension, kidney damage, were found. MMACHC, MUT, MMAA, MMAB, HCFC1, SUCLG1, SUCLA2 mutations were found in 631 patients (96.6%) out of 661 patients who accepted gene analysis. MMACHC mutations were detected in 460 patients (94.7%) out of 486 cases of methylmalonic acidemia combined with homocysteinemia. MUT mutations were found in 158 (90.3%) out of 169 cases of isolated methylmalonic acidemia. The development of 59 patients detected by newborn screening were normal; 918 cases (97.2%) were diagnosed after onset accepted the treatment. Forty-five of them completely recovered with normal development. Twenty-six patients (2.7%) died; 873 (92.5%) patients had mild to severe psychomotor retardation. Methylmalonic acidemia were found in 35 out of 165 fetuses by metabolites assay of amniotic fluid and amniocytes gene analysis. Conclusion: Combined methylmalonic acidemia and homocysteinemia is the common type of methylmalonic acidemia in the mainland of China. CblC defect due to MMACHC mutations is the most common type of methylmalonic acidemia combined with homocysteinemia. MUT gene mutations are frequent in the patients with isolated methylmalonic acidemia. Newborn screening is key for the early diagnosis and the better outcome. Combined diagnosis of biochemical assays and gene analysis are reliable for the prenatal diagnosis of methylmalonic acidemia.

A prospective observational study was performed to evaluate the results of treatment with concurrent chemoradiotherapy (CCRT) in patients with cervical esophageal squamous cell carcinoma (CESCC). Patients had CESCC, no distant metastasis, were 18-75 years old, and had PS 0-2. Radiotherapy (RT) was administered as either three-dimensional conformal radiation therapy (3D-CRT) or intensity-modulated radiation therapy (IMRT) with a total dose of 60 Gy/30 fractions. All patients were treated with platinum-based doublet concurrent chemotherapeutic regimens. CCRT was followed by 2-3 cycles of consolidation chemotherapy. The endpoints were overall survival (OS), progression-free survival (PFS), toxicities, and failure patterns. Ninety-two patients were enrolled from March 2007 to July 2014. The median follow-up time was 34 months. For all patients, the 3-year OS was 49.8% (median OS: 36 months, 95% CI: 24.963-47.051), and the 3-year PFS was 42.1%, (median PFS: 25 months, 95% CI: 17.097-32.903). Treatment failures occurred in 54 patients, including 30 cases (32.6%) with locoregional failure alone, 14 cases (15.2%) with distant metastasis alone, and 10 cases (10.9%) with both locoregional failure and distant metastasis. There were 51 (55.4%) and 3 cases (3.3%) of grade 3 and grade 5 radiation esophagitis, respectively. One patient (1%) had grade 5 laryngeal edema. Overall, CCRT has tolerable acute toxicities, and this regimen is an option for the treatment of patients with CESCC.

Background and Aims: Obesity is a major worldwide health problem and is often associated with many metabolic diseases. Levels of several serum-specific metabolites may be altered in patients with these metabolic diseases. We aimed to investigate the associations of serum metabolite levels with obesity and traditional risk factors for metabolic disease in Chinese individuals., Methods and Results: Six-hundred Chinese individuals undergoing annual physical exams were recruited and categorized into overweight/obese and control groups (1:1 ratio). We simultaneously quantified the serum lysophosphatidylcholine (LPC), branched-chain amino acids (BCAA), aromatic amino acids (AAA), 25-hydroxyvitamin D, glutamine (Gln), glutamic acid (Glu), and Gln/Glu ratio levels using our previously established targeted serum metabolomic method. The overweight/obesity group had significantly higher levels of BCAA, AAA, and Glu, as well as lower levels of unsaturated LPC, Gln, and Gln/Glu, than the control group. Correlation analyses revealed significant and positive relationships of saturated LPC, BCAA, AAA, and Glu with blood pressure, glucose, triglycerides, apolipoprotein B, and high-sensitivity C-reactive protein, while unsaturated LPC, Gln, Gln/Glu, and 25-hydroxyvitamin D exhibited an opposite trend. In the multifactor logistic regression model, low unsaturated LPC and Gln/Glu, as well as high BCAA and AAA levels, were found to be independent risk factors for obesity; the odds ratios (95% confidence interval) of the highest quartile compared to the lowest quartile were 0.241 (0.139-0.417), 0.436 (0.252-0.755), 3.944 (2.094-7.430), and 2.357 (1.274-4.361) (P < 0.01), respectively., Conclusion: LPC, BCAA, AAA, and Gln/Glu are significantly related to obesity development and risk factors of some metabolic diseases., (Copyright © 2017 The Italian Society of Diabetology, the Italian Society for the Study of Atherosclerosis, the Italian Society of Human Nutrition, and the Department of Clinical Medicine and Surgery, Federico II University. Published by Elsevier B.V. All rights reserved.)

Objective: To explore the related factors of anemia during pregnancy and provide scientific evidence for the primary prevention of anemia during pregnancy. Methods: The pregnant women (≤12 pregnant weeks) who received the first pregnancy care in a local medical institution in Hunan province from June 2013 to November 2014 were included in this cohort study, and for them anemia had been excluded by physical examination. Baseline survey and follow up till childbirth were conducted for them. A queue-based nested case-control study (1 ∶ 2) was conducted (380 pregnant women with anemia detected in this study as case group, 760 pregnant women without anemia randomly selected and matched by age, habitual residence during pregnancy as control group. And t test, χ (2) test and logistic regression analysis were conducted to identify related factors of anemia during pregnancy. Results: Multivariate logistic regression analysis indicated that low family annual income level (net income) ( OR =2.08, 95 %CI : 1.22-3.59), low educational level ( OR =2.09, 95 %CI : 1.22-3.59), pre-pregnancy perm/hair dye ( OR =2.23, 95 %CI : 1.63-3.05), early pregnancy vomiting ( OR =2.51, 95 %CI : 1.56-4.03) were the risk factors for anemia during pregnancy. Intake of vitamin and trace element supplements ( OR =0.69, 95 %CI : 0.50-0.94), frequent meat, fish, shrimp, egg intakes ( OR =0.68, 95 %CI : 0.49-0.92), frequent soy milk, milk intakes ( OR =0.51, 95 %CI : 0.27-0.95) were the protective factors for anemia during pregnancy. Conclusion: A number of factors, such as family annual income level, education level, poisonous and harmful material contact, pregnancy reaction, nutrition, are related to the incidence of anemia during pregnancy, it is necessary to take preventive measures to reduce the incidence of anemia during pregnancy.

Avian leukosis is an immunosuppressive neoplastic disease caused by avian leukosis viruses (ALV), which causes tremendous economic losses in the worldwide poultry industry. The susceptibility or resistance of chicken cells to subgroup A ALV and subgroup B, D, and E ALV are determined by the receptor genes tumor virus locus A (tva) and tumor virus locus B (tvb), respectively. Four genetic resistant loci (tva(r1), tva(r2), tva(r3), and tva(r4)) in tva receptor gene and a genetic resistant locus tvb(r) in the tvb receptor gene have been identified in inbred lines of White Leghorn. To evaluate the genetic resistance to subgroup A, B, D, and E ALV, genetic variations within resistant loci in tva and tvb genes were screened in Chinese local chicken breeds and commercial broiler lines. Here, the heterozygote tva(s1/r1) and the resistant genotype tva(r2/r2), tva(r3/r3), and tva(r4/r4) were detected in Chinese chickens by direct sequencing. The heterozygote tva(s1/r1) was detected in Huiyang Bearded chicken (HYBC), Rizhaoma chicken, and commercial broiler line 13 to 15 (CB13 to CB15), with the frequencies at 0.08, 0.18, 0.17, 0.25, and 0.15, respectively. The resistant genotype tva(r2/r2) was detected in Jiningbairi chicken (JNBRC), HYBC, and CB15, with the frequencies at 0.03, 0.08, and 0.06, respectively, whereas tva(r3/r3) and tva(r4/r4) were detected in 19 and 17 of the 25 Chinese chickens tested, with the average frequencies at 0.13 and 0.20, respectively. Furthermore, the resistant genotype tvb(r/r) was detected in JNBRC, CB07, CB12, CB14, and CB15 by pyrosequencing assay, with the frequencies at 0.03, 0.03, 0.11, 0.09, and 0.15, respectively. These results demonstrated that the potential for genetic improvement of resistance to subgroup A, B, D, and E ALV were great both in Chinese local chickens and commercial broilers. This study provides valuable insight into the selective breeding for chickens genetically resistant to ALV., (©2014 Poultry Science Association Inc.)

Breast cancer is one of the most frequently diagnosed cancer in women worldwide, and we conducted a case-control study by genotyping seven potentially functional SNPs, three in ERCC1 and four in XPF, in a Chinese population of 417 breast cancer cases and 417 cancer-free controls. Three SNPs in ERCC1 and four SNPs in XPF were genotyped by using the Taqman Universal PCR Master Mix in the GeneAmp(®) PCR System 9700 with Dual 384-Well Sample Block Module, and assays were performed on a 384-well plate on the Sequenom MassARRAY platform. We found that elevated breast cancer risk was associated with those who had a family history of breast cancer and history of breast disease, and those who were over 25 years old at first full-term pregnancy. We found that decreased risk of breast cancer was associated with those who had a history of full-term pregnancies. Compared with the ERCC1 rs11615 T/T genotype, a significantly higher risk of breast cancer was found in the C/C genotype in codominant and dominant models after adjusting for potential risk factors. Similarly, we found that ERCC1 rs3212986 C/C genotype was associated with an increased risk of breast cancer in codominant, dominant and recessive models. Our study indicated that the ERCC1 rs11615 and rs2298881 polymorphisms are associated with breast cancer in a Chinese population. Further studies with large sample size are greatly needed to elucidate the SNPs of ERCC1 and XPF genes in the development of breast cancer.

An outbreak of sheep pox was investigated in the Ningxia Hui Autonomous Region in China. Through immunofluorescence testing, isolated viruses, polymerase chain reaction identification, and electron microscopic examination, the isolated strain was identified as a sheep pox virus. The virus was identified through sequence and phylogenetic analysis of the P32 gene, open reading frame (ORF) 095, and ORF 103 genes. This study is the first to use the ORF 095 and ORF 103 genes as candidate genes for the analysis of sheep pox. The results showed that the ORF 095 and ORF 103 genes could be used for the genotyping of the sheep pox virus.

Aims/hypothesis: Few data are available about intakes and food sources of trans-fatty acids (TFAs) or their associations with cardiometabolic outcomes in Asian people who consume a prudent diet but are experiencing rapid nutritional transitions. We aimed to investigate the relationships between TFA biomarkers and type 2 diabetes and cardiovascular risk factors in Chinese individuals., Methods: Erythrocyte fatty acids were measured by gas chromatography among 3,107 men and women (50-70 years) recruited from urban and rural areas in Beijing and Shanghai, China., Results: Total trans-18:1 and two trans-18:2 isomers were detected and accounted for 0.37% of the total fatty acids in the erythrocytes. Concentrations of TFAs were higher in women than men, and in urban than rural residents. Of the TFAs, trans-18:1, but not trans-18:2, showed a modest association with dairy consumption (β = 0.27), but not with other foods. After adjustment for BMI, social-demographic, lifestyle and dietary factors and other TFAs, erythrocyte trans-18:1 was shown to be associated with a lower risk of type 2 diabetes (OR comparing extreme [first and fourth] quartiles 0.68, 95% CI 0.48, 0.97, p(trend) = 0.02), as well as 20-50% lower odds of central obesity, dyslipidaemia, hyperglycaemia, insulin resistance and chronic inflammation. In contrast, trans-18:2 fatty acids were positively associated with high triacylglycerol (p(trend) < 0.001) and LDL-cholesterol (p(trend) = 0.03) levels, but not with diabetes and other cardiometabolic risk factors., Conclusions/interpretation: Among middle-aged and older Chinese individuals with overall low erythrocyte TFAs levels, trans-18:1 might serve as a marker of dairy intake. Higher trans-18:1 levels were associated with a lower risk of type 2 diabetes, whereas higher trans-18:2 levels were associated with dyslipidaemia.

In this study, 14 unrelated hypertrophic cardiomyopathy (HCM) probands were scanned by polymerase chain reaction-single-strand conformation polymorphism analysis and DNA sequencing. Three mis-sense mutations of the beta-myosin heavy chain gene, MYH7, were found: valine (Val) 606 methionine (Met), arginine (Arg) 694 leucine (Leu), and Arg 723 glycine (Gly). All are reported here for the first time in Chinese subjects. The results showed that: Val606Met is an intermediate malignancy mutation; Arg694Leu is a novel mutation with a benign phenotype; and the Arg723Gly mutation is linked to malignancy - it can lead not only to HCM but also to dilated cardiomyopathy at various ages. The clinical symptoms associated with Arg723Gly emerged early and caused more severe clinical manifestation and poorer prognosis in females than in males. Mis-sense mutations were not detected in the myosin binding protein C, cardiac, cardiac troponin T type 2, or cardiac troponin I type 3 genes. The MYH7 gene may be an HCM mutation hotspot in the Chinese and have unique features in this study population.

Objective: The genetic studies of 13 short tandem repeats(STRs) loci in two multiplex amplification systems were carried out on Chinese Han population in Guangdong., Methods: DNA samples from 328 unrelated individuals were screened. The 13 loci were D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820, D16S539, TH01, TPOX and CSF1PO. The PCR products were analyzed and genotyped by ABI 377-96 Sequencer., Results: The combined power of discrimination (DP) was 0.999999999999993 and the combined paternity of exclusion(PE) was 99.999%. These 13 loci met the Hardy-Weinberg expectations., Conclusion: The two multiplex amplification systems were very useful in forensic case investigation.